المؤلفون: Netto, Alice Brinckmann Oliveira, Málaga, Diana Elizabeth Rojas, Kubaski, Francyne, Facchin, Ana Carolina Brusius, Giugliani, Roberto

مصطلحات موضوعية: DNA extraction, Dried blood spots, Molecular genetic testing, Newborn screening, Targeted next-generation sequencing, Teste em amostras de sangue seco, Análise de sequência de DNA, Reação em cadeia da polimerase, DNA, Triagem neonatal

وصف الملف: application/pdf

العلاقة: Clinical and biomedical research. Porto Alegre. Vol. 42, no. 3 (2022), p. 218-225; http://hdl.handle.net/10183/257207Test; 001165692

الإتاحة: http://hdl.handle.net/10183/257207Test

المؤلفون: Netto, Alice Brinckmann Oliveira, Málaga, Diana Elizabeth Rojas, Kubaski, Francyne, Trapp, Franciele Barbosa, Giugliani, Roberto, Facchin, Ana Carolina Brusius

المساهمون: Hospital de Clínicas de Porto Alegre. Semana Científica. (40. : 2020 : Porto Alegre, RS)

مصطلحات موضوعية: Medicina

وصف الملف: application/pdf

العلاقة: Clinical and biomedical research. Porto Alegre; http://hdl.handle.net/10183/223851Test; 001128025

الإتاحة: http://hdl.handle.net/10183/223851Test

المؤلفون: Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Tirelli, Kristiane Michelin, Magalhães, Ana Paula Pereira Sholz de, Sebastião, Fernanda Medeiros, Bender, Fernanda, De Mari, Jurema de Fatima, Facchin, Ana Carolina Brusius, Leistner-Segal, Sandra, Málaga, Diana Elizabeth Rojas, Giugliani, Roberto

مصطلحات موضوعية: Lysosomal storage diseases, Metabolic diseases, Mucopolysaccharidoses, Epidemiology, Brazil, Prevalência, Nascido vivo, Mucopolissacaridoses, Epidemiologia, Brasil

وصف الملف: application/pdf

العلاقة: Genetics and molecular biology. Ribeirão Preto. Vol. 44, n. 1 (2021), e20201387, 6 p.; http://hdl.handle.net/10183/220903Test; 001123201

الإتاحة: http://hdl.handle.net/10183/220903Test

المؤلفون: Vairo, Filippo Pinto e, Málaga, Diana Elizabeth Rojas, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Baldo, Guilherme, Giugliani, Roberto

مصطلحات موضوعية: Doenças por armazenamento dos lisossomos, Erros inatos do metabolismo, Medicina de precisão, Terapia de reposição de enzimas, Terapia genética, Lysosomal diseases, Precision medicine, Enzyme replacement therapy, Pharmacological chaperones, Gene therapy

وصف الملف: application/pdf

العلاقة: Biomolecules. Basel. Vol. 10, no. 8 (Aug. 2020), 1110, p. 1-26; http://hdl.handle.net/10183/214122Test; 001117489

الإتاحة: http://hdl.handle.net/10183/214122Test

المؤلفون: Nunes, Andrea, Meira, Joanna, Cunha, Caio, Veiga, Marielza, Magalhães, Ana Paula Pereira Sholz de, Málaga, Diana Elizabeth Rojas, Giugliani, Roberto, Leão, Emília Katiane Embiruçu de Araújo

مصطلحات موضوعية: Doenças por armazenamento dos lisossomos, Lipofuscinoses ceróides nueronais, Doenças neurodegenerativas, Relatos de casos, Mutação, Lysosomal storage disorders, Neuronal ceroid lipofuscinoses, CLN2, TPP1, Childhood neurodegenerative diseases

وصف الملف: application/pdf

العلاقة: Journal of inborn errors of metabolism & screening. Porto Alegre. Vol. 8 (2020), e20200010, 5 p.; http://hdl.handle.net/10183/220782Test; 001121941

الإتاحة: http://hdl.handle.net/10183/220782Test

المؤلفون: Málaga, Diana Elizabeth Rojas, Facchin, Ana Carolina Brusius, Pereira, Maria Luiza Saraiva, Giugliani, Roberto

المساهمون: Hospital de Clínicas de Porto Alegre. Semana Científica. (38. : 2018 : Porto Alegre, RS)

مصطلحات موضوعية: Medicina

وصف الملف: application/pdf

العلاقة: Clinical and biomedical research. Porto Alegre; http://hdl.handle.net/10183/210026Test; 001093101

الإتاحة: http://hdl.handle.net/10183/210026Test

المؤلفون: Almeida, Matheus Raposo Pereira Martins de, Couto, Rowena Rubim Silva do, Málaga, Diana Elizabeth Rojas, Facchin, Ana Carolina Brusius, Leistner-Segal, Sandra

المساهمون: Hospital de Clínicas de Porto Alegre. Semana Científica. (38. : 2018 : Porto Alegre, RS)

مصطلحات موضوعية: Medicina

وصف الملف: application/pdf

العلاقة: Clinical and biomedical research. Porto Alegre; http://hdl.handle.net/10183/207378Test; 001084872

الإتاحة: http://hdl.handle.net/10183/207378Test

المؤلفون: Fachin, Ana Carolina Brusius, Siebert, Marina, Leão, Delva Pereira, Málaga, Diana Elizabeth Rojas, Pasqualim, Gabriela, Trapp, Franciele Barbosa, Matte, Ursula da Silveira, Giugliani, Roberto, Leistner-Segal, Sandra

مصطلحات موضوعية: Mucopolissacaridoses, Doença de depósito lisossomal, Mutação, Lysosomal storage disease, Mucopolysaccharidoses, Next generation sequencing, Target sequence, Mutation detection

وصف الملف: application/pdf

العلاقة: Genetics and molecular biology. Ribeirão Preto. Vol. 42, n. 1, suppl. 1 (2019), p. 261-285; http://hdl.handle.net/10183/201045Test; 001101798

الإتاحة: http://hdl.handle.net/10183/201045Test

المؤلفون: Málaga, Diana Elizabeth Rojas, Facchin, Ana Carolina Brusius, Siebert, Marina, Pasqualim, Gabriela, Pereira, Maria Luiza Saraiva, Souza, Carolina Fischinger Moura de, Schwartz, Ida Vanessa Doederlein, Matte, Ursula da Silveira, Giugliani, Roberto

مصطلحات موضوعية: Doenças por armazenamento dos lisossomos, Patologia molecular, Ion Torrent, Molecular diagnostics, Next-generation sequencing, Lysosomal storage disorders

وصف الملف: application/pdf

العلاقة: Genetics and molecular biology. Ribeirão Preto. Vol. 42, no. 1 suppl (Apr. 2019), p. 197-206; http://hdl.handle.net/10183/199713Test; 001100010

الإتاحة: http://hdl.handle.net/10183/199713Test

المؤلفون: Málaga, Diana Elizabeth Rojas, Couto, Rowena Rubim Silva do, Trapp, Franciele Barbosa, Facchin, Ana Carolina Brusius, Leistner-Segal, Sandra, Giugliani, Roberto

المساهمون: Hospital de Clínicas de Porto Alegre. Semana Científica. (37. : 2017 : Porto Alegre, RS)

مصطلحات موضوعية: Medicina

وصف الملف: application/pdf

العلاقة: Clinical and biomedical research. Porto Alegre; http://hdl.handle.net/10183/173643Test; 001056554

الإتاحة: http://hdl.handle.net/10183/173643Test